Neonatal adrenoleukodystrophy
Open accessAbstract
Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa. The clinical course was rapidly progressive in six cases and more protracted in three others. Biological signs of adrenal insufficiency were present in five cases. CT scan showed a demyelinating process in four patients. Trilamellar inclusions were found in the liver of four cases and dark and complex lipidic inclusions in three other cases. In the three necropsied patients there was severe alteration of the white matter involving particularly the cerebellum in two cases. Gyral and cytoarchitectonic disturbances were absent in all three cases. Increased plasma levels of very long chain fatty acids (8/8), phytanic acid (7/8) and bile fluid trihydroxycoprostanic acid (2/4) confirmed the deficiency of multiple peroxisomal enzymes. Clinical, histopathological and biochemical findings of these nine cases are compared to those reported in other neonatal adrenoleukodystrophy cases and to those of other neonatal peroxisomal disorders, that is cerebro-hepato-renal syndrome of Zellweger and infantile Refsum's disease.
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Heterotopic Purkinje cells were found aggregated in irregular clumps in subcortical areas of the cerebellar cortex in two of three neonatal adrenoleukodystrophy cases.
“Heterotopic Purkinje cells were found to be aggregated in irregular clumps in the subcortical areas of the cerebellar cortex in two of the three cases [57].”
From Peroxisomes in brain development and function (2016) · cites this paper as [57]
Neuropathological examination of brains from three cases of neonatal adrenoleukodystrophy revealed severe degeneration of the white matter involving both hemispheres of cerebrum and cerebellum, while the axons were preserved.
“Neuropathological examination of brains obtained from three cases of neonatal adrenoleukodystrophy revealed a severe degeneration of the white matter involving both hemispheres of cerebrum and cerebellum, while the axons were preserved [57].”
From Peroxisomes in brain development and function (2016) · cites this paper as [57]
In the cerebellum of one neonatal adrenoleukodystrophy case, overabundance of reactive astrocytes in the white matter was associated with perivascular cuffs of mononuclear cells.
“In the cerebellum of one case, overabundance of reactive astrocytes in the white matter was associated with perivascular cuffs of mononuclear cells [57].”
From Peroxisomes in brain development and function (2016) · cites this paper as [57]
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- Authors
- Aubourg, P., Scotto, J., Rocchiccioli, F., Feldmann-Pautrat, D., & Robain, O.
- Affiliations
- Inserm (FR)
- Hôpital Necker-Enfants Malades (FR)
- Hôpital Saint-Vincent-de-Paul (FR)
- Venue
- Journal of Neurology, Neurosurgery & Psychiatry
- Publisher
- BMJ
- Published
- 1986-01-01
- Volume
- 49
- Issue
- 1
- Pages
- 77-86
- ISSN
- 0022-3050 (ISSN-L)
- PMC
- PMC1028652
- OpenAlex
- W4251305217
- Cited by
- 77
- References
- 33
- Citations by year
- 2024: 1 · 2023: 1 · 2022: 2 · 2020: 4 · 2019: 1 · 2018: 1 · 2017: 1 · 2016: 2 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 4
- FWCI
- 6.43
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Neurology Neurosurgery & Psychiatry (publishedVersion)
- PubMed Central (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- neonatal adrenoleukodystrophy, peroxisomal disorders, very long chain fatty acids, phytanic acid, adrenal insufficiency, retinitis pigmentosa, hepatomegaly, hypotonia, demyelination, cerebellar white matter, Zellweger syndrome, Refsum disease, peroxisomal enzyme deficiency
- MeSH terms
- Adrenal Cortex, Adrenoleukodystrophy, Biopsy, Brain, Diffuse Cerebral Sclerosis of Schilder, Diagnosis, Differential, Female, Humans, Infant, Infant, Newborn, Liver, Male, Microbodies, Refsum Disease, Spinal Nerves
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